GJA5 gene

gap junction protein alpha 5

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]

From UniProt:

One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.

Covered on Genetics Home Reference:

From NCBI Gene:

  • 1q21.1 recurrent microdeletion
  • Atrial standstill 1
  • Atrial fibrillation, familial, 11

From UniProt:

Atrial fibrillation, familial, 11 (ATFB11): A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. [MIM:614049]

Atrial standstill 1 (ATRST1): A rare arrhythmia characterized by the absence of electrical and mechanical activity in the atria. Electrocardiographically, it is characterized by bradycardia, the absence of P waves, and a junctional narrow complex escape rhythm. [MIM:108770]

Cytogenetic Location: 1q21.2, which is the long (q) arm of chromosome 1 at position 21.2

Molecular Location: base pairs 147,756,199 to 147,781,127 on chromosome 1 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 1q21.2, which is the long (q) arm of chromosome 1 at position 21.2
  • ATFB11
  • CX40